Variant report

Variant	rs1904119
Chromosome Location	chr8:4529945-4529946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10092221	0.85[MEX][hapmap]
rs10102117	0.87[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs1038063	0.94[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap]
rs1038064	0.82[ASW][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.85[YRI][hapmap]
rs11984453	0.81[LWK][hapmap]
rs1382246	0.94[CHB][hapmap]
rs1478267	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1478268	0.81[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs2126874	0.85[CHB][hapmap]
rs2126876	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2447697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2466730	0.94[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617012	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs2617017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2617021	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2617022	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2617028	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2617058	0.80[CHD][hapmap]
rs2724962	0.94[CHB][hapmap];0.81[CHD][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2724963	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2724998	0.87[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs2725016	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2725058	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725074	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs2725077	0.85[JPT][hapmap]
rs4529488	0.81[CHB][hapmap]
rs6558901	1.00[CHB][hapmap]
rs6558902	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs7813769	0.87[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap]
rs7826491	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844762	0.87[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap]
rs978440	0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2422279	chr8:4458646-4641684	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv465386	chr8:4467334-4676661	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv609861	chr8:4467334-4676661	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv34055	chr8:4486892-4745355	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv831214	chr8:4498127-4679475	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1033283	chr8:4503347-4625732	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1028597	chr8:4510821-4611710	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv539396	chr8:4510821-4611710	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv609877	chr8:4517817-4626560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1034882	chr8:4519946-4535022	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1023076	chr8:4519946-4541292	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1022249	chr8:4521513-4535022	ZNF genes & repeats Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3401908	chr8:4528344-4532542	Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4528400-4530000	Enhancers	Fetal Heart	heart
2	chr8:4529800-4532200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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